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一名检测出JAK2突变的患者因脾门静脉轴血栓形成导致大量上消化道出血:病例报告及文献复习

Massive upper gastrointestinal bleeding due to splenoportal axis thrombosis in a patient with a tested JAK2 mutation: A case report and review literature.

作者信息

Macías Isabel

机构信息

Department of Surgery, Universitary Hospital Reina Sofia, Córdoba, Spain.

出版信息

Int J Surg Case Rep. 2016;28:93-96. doi: 10.1016/j.ijscr.2016.08.013. Epub 2016 Aug 13.

Abstract

Portal hypertension is a clinical syndrome defined as a portal venous pressure that exceeds 10mmHg. Cirrhosis is the most common cause of portal hypertension and thrombosis of the splenoportal axis not associated with liver cirrhosis is the second cause of portal hypertension in the Western world. The primary myeloproliferative disorders are the main cause of portal venous thrombosis and somatic mutation of Janus Kinase 2 gene (JAK2 V617F) can be found in approximately 90% of polycythemia vera, 50% of essential thrombocyrosis and 50% primary myelofibrosis. A a 55-year-old man with JAK2 mutation-associated splenoportal axis hypertension and bleeding complications due to oesophageal varices is reported. A massive upper bleeding episode made an emergent surgery to be done immediatelly at seventh day. The patient was discharged home at fifteenth day after surgery.

摘要

门静脉高压是一种临床综合征,定义为门静脉压力超过10mmHg。肝硬化是门静脉高压最常见的原因,在西方世界,脾门静脉轴血栓形成且与肝硬化无关是门静脉高压的第二大原因。原发性骨髓增殖性疾病是门静脉血栓形成的主要原因,约90%的真性红细胞增多症、50%的原发性血小板增多症和50%的原发性骨髓纤维化中可发现Janus激酶2基因(JAK2 V617F)的体细胞突变。本文报道了一名55岁男性,患有与JAK2突变相关的脾门静脉轴高压,并因食管静脉曲张出现出血并发症。在第七天因一次大量上消化道出血发作而立即进行了急诊手术。患者术后第15天出院回家。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1967/5045565/fa36a162098b/gr1.jpg

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